Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
41629344 (PubMed )
Supplement: 41525_2025_547_MOESM2_ESM.xlsx › Table_S6
Polygenic Risk Score and Rare Variant Burden Identified by Targeted Sequencing in a Group of Patients with Pigment Epithelial Detachment in Age-Related Macular Degeneration.
Wąsowska A et al.
Genes, 2023
37761846 (PubMed )
Supplement: genes-14-01707-s001.zip › genes-2482546-supplementary › Supplementary_Table_S1.xlsx › Rare_variants
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf
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